Detalhe da pesquisa
1.
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.
Am J Kidney Dis
; 83(2): 183-195, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717846
2.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
3.
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
J Med Genet
; 59(7): 691-696, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34215651
4.
White epidermal nevus as an early sign of tuberous sclerosis complex-A case series.
Pediatr Dermatol
; 40(4): 633-636, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37029338
5.
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pediatr Nephrol
; 37(7): 1623-1646, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34993602
6.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
7.
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).
Am J Med Genet A
; 185(12): 3804-3809, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435740
8.
[THE GENETIC BASIS OF CHRONIC KIDNEY DISEASE IN CHILDREN AND YOUNG ADULTS].
Harefuah
; 160(12): 839-846, 2021 Dec.
Artigo
em Hebraico
| MEDLINE | ID: mdl-34957723
9.
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.
BMC Med Genet
; 20(1): 53, 2019 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30922245
10.
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Hum Mutat
; 39(1): 69-79, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044765
11.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522029
12.
National Rapid Genome Sequencing in Neonatal Intensive Care.
JAMA Netw Open
; 7(2): e240146, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386321
13.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
EMBO Mol Med
; 15(5): e16775, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013609
14.
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Front Pediatr
; 10: 844845, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35433545
15.
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Front Genet
; 13: 1018062, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36699461
16.
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Sci Rep
; 11(1): 19099, 2021 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34580403
17.
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.
Mol Genet Genomic Med
; 7(6): e665, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31020800